|
Symbol Name ID |
Arsa
arylsulfatase A MGI:88077 |
| Darker colors indicate more annotations |
| Human Phenotypes | Increased CSF protein concentration |
Dysphagia |
Abnormality of visual evoked potentials |
Spastic tetraparesis |
Spastic tetraplegia |
Progressive spasticity |
Frequent falls |
Bulbar palsy |
CNS demyelination |
Peripheral demyelination |
Abnormal cerebral white matter morphology |
Abnormal periventricular white matter morphology |
Periventricular leukomalacia |
Hyperintensity of cerebral white matter on MRI |
Ataxia |
Gait ataxia |
Incoordination |
Chorea |
Tremor |
Babinski sign |
Tetraplegia |
Decreased nerve conduction velocity |
Dysarthria |
Loss of speech |
Emotional lability |
Delusion |
Psychosis |
Schizophrenia |
Hallucinations |
Atypical behavior |
Personality changes |
Addictive behavior |
Mental deterioration |
Dementia |
Motor deterioration |
Intellectual disability |
Hyperreflexia |
Hyporeflexia |
Dystonia |
Gait disturbance |
Loss of ambulation |
Tip-toe gait |
Developmental regression |
Global developmental delay |
Peripheral neuropathy |
Polyneuropathy |
Progressive peripheral neuropathy |
Seizure |
| Disease(s) Associated with ARSA | ||||||||||||||||||||||||||||||||||||||||||||||||
| metachromatic leukodystrophy |
| Mouse Phenotypes | abnormal microglial cell morphology |
abnormal brain white matter morphology |
abnormal brain internal capsule morphology |
abnormal Purkinje cell morphology |
Purkinje cell degeneration |
abnormal cerebellar molecular layer |
astrocytosis |
abnormal Schwann cell morphology |
abnormal neuron morphology |
abnormal axon morphology |
cochlear ganglion degeneration |
abnormal vestibular ganglion morphology |
abnormal myelination |
demyelination |
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| Availability | Mouse Genotype | ||||||||||||||
| Arsatm1Gie/Arsatm1Gie | |||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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